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H
FS D
dvocate 2021 • Issue 2
Take On
Leadership
Build
Get Stronger Self
Physically Educate
your
Get Stronger
Mentally
strengths Be
Proactive
1
Table of
Special Section Contents
Build PAGE
Your
Strengths
10 Special Section: Build Your Strengths
Developing a resilient mind. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4
An active force for FSHD .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .7
Regaining the freedom to travel. . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8
My bumpy journey to activism . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10
The new Early-Onset FSHD Chapter. . . . . . . . . . . . . . . . . . . . . . . . 12
PAGE
Calling all GenZ of FSHD .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12
12 The army of everyone. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 13
A c t i vat i n g R e s e a r c h
PAGE
ReDUX4 trial results exceed expectations . . . . . . . . . . . . . . . . 14
16
PAGE
4 28th annual International Research Congress. . . . . . . . . . 15
Adding an arrow to the quiver. . . . . . . . . . . . . . . . . . . . . . . 16
The search for circulating blood biomarkers
in FSHD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17
Noteworthy
PAGE
7
FSHD University: Dynamic Sitting. . . . . . . . . . . . . . . . . . . . . 18
Educating doctors about FSHD on August 12 . . . . . . . . . . . . 18
What is FSHD 360?. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 18
Upcoming
Webinars, radio, chapter meetings, Wellness Hour,
Sharegiver Hour. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19
PAGE B a c k pa g e
15 Moving together toward a cure. . . . . . . . . . . . . . . . . . . . . . . . . . . . . 20
PAGE H
FS D
13 dvocate
The FSHD Society does not endorse any of the drugs, procedures, treatments, or
products discussed in its reporting. We urge you to consult your physician about
any medical interventions.
FSHD Advocate is published by the FSHD Society. All material is copyrighted.
To be placed on the mailing list, request permission to republish content,
provide feedback, or propose an article for future issues, please write to:
Editor
June Kinoshita
june.kinoshita@fshdsociety.org
Copy Editor
Look for us on the Internet at
Elaine Alibrandi
fshdsociety.org. We thank the
Graphic Design FSHD Society staff for their
Leslie Anne Feagley editorial assistance.
2
CEO
Letter
The power of one
L
egendary basketball coach John individuals who decided to take action, wherever they
Wooden would say, “Do not let were, to bring about needed changes. You can read
what you cannot do interfere with what about some of these people in articles like “The army
you can do.” These words make me think of everyone” and “My bumpy journey to activism.”
of you. On a daily basis, the “power of Interwoven into our community’s DNA are the passion
one” is on display throughout the FSHD and persistence in each person who decides to join their
community. You are incredibly inventive Mark A. Stone abilities with others’ toward our common goal – a cure
in overcoming obstacles and living full, for FSHD.
more empowered lives. With eyes on “what you can As we move forward together, I encourage you to
do,” you move confidently through your day – living an explore the difference the power of self-activation could
overcomer’s life. make in your life. The renewed optimism and energy
The real message behind Coach Wooden’s challenge is generated when you “do those things you can do.” The
that a change in focus will foster a change in action and power to help others along their journey. The sense of
impact every area of your life. control as you take steps
The moment you decide to to make today better than
get out of the stands and onto yesterday for yourself and
the court, you feel energy others.
and excitement begin to flow And as you take those
through you. Many of you steps, be assured that the
are living examples of this, FSHD Society, a community
and I hope that, as you read of thousands of activated
the articles in this issue of individuals, will be there to
the FSHD Advocate, you will join you in the journey.
discover – or rediscover – the
power of a self-activated life. “Do not let what you
While the FSHD Society cannot do interfere with what
is celebrating 30 years of
advancing research toward you can do.”
Mark Stone
treatments and a cure, – John Wooden President and CEO
our history is really about FSHD Society
Board of Directors Michelle H. Mackay Scientific Advisory Board FSHD Society
James A. Chin Sr., Chair Marie Morrell David Glass, MD, Co-chair (781) 301-6060
Howard Chabner, Vice-Chair George Pollock Jr. David E. Housman, PhD, Co-chair info@fshdsociety.org
Ellen K. Hannan, Treasurer David Rubin Michael R. Altherr, PhD fshdsociety.org
Christine Ford, Secretary Bruce Ryskamp Robert H. Brown Jr., MD DPhil
To send general mail:
Amy Z. Bekier Neil Solomon, MD Rune R. Frants, PhD
75 North Main Street, Suite 1073
Jack Gerblick Carden Wyckoff L. Frank Kolakowski, PhD
Randolph, MA 02368
L. Frank Kolakowski, PhD Mark Stone, President & CEO Louis M. Kunkel, PhD
USA
Stuart Lai Daniel P. Perez, Co-founder, Director Katherine D. Mathews, MD
Linda Laurello Emeritus George W. A. M. Padberg, MD To mail donations:
William R. Lewis III, MD William R. Lewis Sr., MD, Chair Kathryn Wagner, MD PhD PO Box 4106
Emeritus Department 960
Woburn, MA 01888
USA
3
BUILD YOUR
STRENGTHS
Developing a resilient mind
Putting mindfulness into action
b y D a v i d Y o u n g e r , A u s t i n , T e x as
ne of the things that stands out to me most vividly about my
experience in late adolescence through my 20s and into my 30s was
how much I lived at the mercy of my mind. I would wake up one day
feeling energetic and optimistic, attractive and alive. The next day I’d wake up
feeling small and fearful, insecure and alone. Nothing had changed externally. It
was all the product of my fickle mind.
Even though today my body presents a lot more challenges than it did when I was in my 20s and 30s,
I no longer live at the mercy of my mind, and for this reason, I am happier and more peaceful in spite
of some hefty challenges. This is my “street cred.” What I am sharing with you is my lived experience,
not a theory in a textbook.
I first became interested in mindfulness and Eastern philosophy in college. But it’s been only in
the past decade that I started training formally, and I recently completed a two-year mindfulness and
meditation teacher training with Jack Kornfield and Tara Brach, two leaders in the field.
The art of training the mind is quite straightforward in theory, yet it can be elusive in practice.
One of the reasons is that it involves a lot of deconditioning and unlearning. This can feel very
threatening to a mind that wants to assert control at all costs.
There are a lot of factors that contribute to well-being. I don’t want to oversimplify things, but there
is a powerful variable that sits at the heart of my message today: Circumstances, including illness, in-
fluence, but do not dictate our well-being. It is how we relate to our circumstances that matters most.
Most of us are on autopilot, going through the motions, lost in our thoughts, busy thinking about
the past or the future, acting and reacting. We miss the present moment, the only moment we ever
have to be alive, to make decisions, to grow, to heal, to be there for the people we love.
4
BUILD YOUR
STRENGTHS
Parable of the two arrows and more space in your head and body, leaving less room
My favorite Buddhist teaching is the parable of the two for other things.
arrows: The first arrow is what life slings at us, things Mindfulness teacher Shinzen Young created a formula
like illness, loss, pain, pandemics. These are outside of that I love: “Suffering equals pain times resistance.”
our control. What happens if you have pain as a constant and there is
The second arrow is what we shoot at ourselves in zero resistance? Zero times something … what happens to
response to the first arrow. It includes the clinging, aver- the suffering?
sion, anxieties, projections, and fears in response to the So often, when we suffer from chronic pain, we’re really
felt pain of the first arrow. When will it go away? I don’t angry at the body because the body has betrayed us. The
want to feel this way. Will it last forever? What have I pain can become emblematic of a narrative that we create
done to deserve this? about failure and loss, to many deep-seeded emotions con-
It is the second arrow that turns pain into suffering. It is nected to the experience of pain.
also the second arrow that we have control over. When we resist pain – by physical tensing, emotional
We cannot control how the DUX4 gene impacts our reactivity, judgment, or avoidance – our identity becomes
muscles. We do, however, have agency over how we relate linked with it. We become the victim of pain. It is happen-
to the loss of function and how we relate to the thoughts ing to us. Resisting turns unpleasantness into suffering.
and feelings that arise in response to the loss. Awareness and attitude are the antidotes to suffering. I do
When we do start to fire the second arrow, we not mean they are the antidotes to pain. They are the anti-
want to become aware that we are doing so, allowing dotes to suffering, which is caused by resistance. When we
us to turn back to the experience itself, creating the purposefully bring a kind and mindful attention to pain and
space and openness and compassion for it to run its the resistance to pain, the identification that creates suffering
natural course. is dissolved. We become the witness, and not the victim.
When something happens that makes you feel sadness Pain and suffering are not the same. Pain is an experi-
or pain, it’s natural to want to get rid of the pain. Many ence, a feeling, a response that can manifest itself in dif-
people are afraid that if they allow themselves to feel the ferent ways, including in the body as physical pain and
pain, it will be overwhelming and will never go away. The emotionally as psychic pain.
irony is that the opposite is true. When you keep pushing Pain is not the same as suffering, but pain often leads to
the pain away, it grows, and pressure builds. It rents more suffering.
The Guest House
This being human is a guest house. The dark thought, the shame, the malice,
Every morning a new arrival. meet them at the door laughing,
and invite them in.
A joy, a depression, a meanness,
Some momentary awareness comes Be grateful for whoever comes,
as an unexpected visitor. because each has been sent
as a guide from beyond.
Welcome and entertain them all!
...
– Rumi
5
BUILD YOUR
STRENGTHS
Tools to cultivate mindfulness Once we recognize and pause, the next step is the
Now, I am going to teach you a powerful tool to over- A of acceptance.
come the barriers to presence, to catch and break those Acceptance is simply about meeting whatever you are
second arrows, and to help you start to cultivate a mind- experiencing with an open heart. Some people like to say
fulness practice called RAIN. to themselves, “I consent” or “this, too” or “can I be with
RAIN is an acronym used in the mindfulness commu- this?” Your job is not to change anything or fix anything.
nity as a tool for practicing mindfulness. Moving on to the I of RAIN – investigate.
First, what are you experiencing in the moment in your
R = Recognize. Attend to whatever is happening body? If you’re feeling sad, can you locate the sadness in
in the present moment. your body? Do you feel a tightness in your chest or throat,
A = Accept. Meet what is occurring right now heaviness in your stomach? Your job is not to figure out
with an open heart. what caused it. It’s just about locating it and connecting
I = Investigate. With compassion. with how it is living inside you in the moment.
N = Nurture. Second, what are you feeling in the moment? Can you
categorize it as positive, negative, or neutral? Can you be
Let’s start with the R, recognizing what is happening. with it as it is?
The key is to pay attention. Without judgment, just name Third, what are you thinking about in the moment? Can
things as they happen. You don’t have to fix it or change you be with that as it is?
it. Just name it. When you find yourself lost in thought Fourth, are there beliefs that you hold as a result of
and you become aware of it, you say to yourself “think- what you are experiencing? Are there narratives you have
ing.” When you recognize you are feeling something you created related to what you are experiencing?
can say to yourself “feeling,” or you can say “sad,” “anx- The final step is N, nurturing. This is about asking
ious,” “afraid.” yourself what you need, how to best take care of yourself,
Recognizing is about stepping back and observing. meeting your experiences with compassion and an open
The hidden power in this is that the more you do this, heart. You don’t have to come up with an answer. It’s the
the more you are distancing yourself from identifying act of compassion that matters most, saying to the vulner-
with your thoughts and feelings. When we identify with able part of yourself, “I see you.”
our thoughts and feelings by clinging to them or fighting Finally, after RAIN, we step back and examine our
them, we are inadvertently giving them much process. What does it mean to not identify with your
more power. experience? Recognize that you are not your thoughts or
The next thing to do, after the R of recognizing, but feelings? You can observe them, name them, accept them,
before the A of acceptance, is to start practicing what is understand them, but they do not define you. It’s helpful
referred to as the sacred pause. to take stock of how you are feeling before you practice
Philosopher Viktor Frankl said, “Between stimulus and with RAIN and then how you are feeling after. This will
response there is a space. In that space is our power to help you to see how everything is always changing.
choose our response. In our response lies our growth I hope my explanation helps to clarify what mindful-
and our freedom.” ness is about and how you can put it into practice. It is
The pause allows us to ask ourselves: What is hap- about coming off autopilot by cultivating a witness to our
pening right now? Why am I getting so upset? Just ask- experiences.
ing those two questions before responding will provide
enough time for the adrenaline to subside a bit and to Note: A handout for practicing RAIN is available on Dr.
respond from a different place. Younger’s blog post at fshdsociety.org.
6
BUILD YOUR
STRENGTHS
AN ACTIVE FORCE for FSHD
You can make a difference!
When you first found our website The need is urgent. There could be four
(fshdsociety.org), you may have signed up to or five FSHD clinical trials in the coming
receive our emails, and you may, understand- year, yet there may not be enough known,
ably, have thought you were all set. But we email-contactable patients in our database
still have two vital, unanswered questions: to meet the enrollment goals for these tri-
• Are you a person with FSHD? als. Any delay in enrolling patients slows
• Where do you live? down the entire clinical trial – and delays
promising therapies from reaching our
We must have this information because our community.
clinical trial alerts go out only to patients Even if you have been a member of the
who live near a study location. To make sure FSHD Society for many years, or personally
you’ll be notified, please fill out the Research know our staff, the fact that you are a pa-
Contact Registry form on our website. Your tient may not be recorded in our database.
data is safe with us. You will NOT be con- To be safe, just point your smartphone at
tacted directly by companies or automati- the QR code to get to the online form and
cally enrolled in a study. fill it out.
Do you have family members with FSHD?
Let them know how important it is for each individual
to join the Research Contact Registry.
7
BUILD YOUR
STRENGTHS
Regaining the freedom to travel
With folding lightweight power wheelchairs
b y A m y B e k i e r , S a n D i e g o C ha p t e r d i r e c t o r
N
o one choos-
es to use a
wheelchair. Many
who are still mobile
opt for a scooter and
hope it’s not the end
of their walking life Amy Bekier
– and to avoid the per-
ceived stigma of using a chair. Once
you have crossed the threshold to
purchase a “personal people mover,”
however, your world will open.
Scooters tend to be heavy and
difficult to break apart to put into a
car, make a U-turn in an elevator, or
navigate in a restaurant. A far better
EZ-Lite Cruiser
option is the foldable travel electric
power wheelchair. This article re-
views questions to ask when you are $3,900. Some chairs may be covered
considering this option. It is by no by insurance with a doctor’s durable
means definitive, as new models are medical equipment prescription
popping up even as I write this. or through the VA. Ask how to file
Think of a folding power wheel- for insurance and whether there is
chair as a scooter replacement but financing.
with a smaller footprint that can turn The following are questions to
on a dime. They are usually lighter consider when contemplating a pur-
in weight, ranging from 50 to 65 chase of a folding power wheelchair.
pounds, whereas a scooter can be 90 If you plan to take the chair on a
to 125 pounds or more. Bruno Cub-Sider® trip, you will want to know:
Folding chairs have drawbacks. • What type of battery does it use?
They do not elevate, and most do not Before purchasing a Most airlines accept only sealed dry
recline. They cannot be customized cell batteries. Some may require you
(except for accessories), nor are they
vehicle, I recommend carry on the battery before stow-
comfortable enough for full-time use. deciding what type of ing the chair. Check each airline for
However, they are ideal for someone equipment you will want, maximum acceptable wattage.
who still has some walking ability • Is the charger compatible in other
and is looking for part-time transport.
and visit a mobility countries?
And because they can be folded, specialist to make sure
they are convenient to take on a trip, the lift and the chair The next consideration is how to
including air travel. stow it in a vehicle. Is there someone
Be prepared for a foldable power
will fit your car. who can lift it in/out? I have a Bruno
wheelchair to cost from $1,500 to Curb-Sider® lift in the rear of my SUV.
8
Until recently I was able to manipu-
late it quite easily. Now I’m pursu-
ing a ramp or other modification
to maintain independence. Before
3 Checklist
purchasing a vehicle, I recommend
deciding what type of equipment you The following are questions to consider when contemplating a purchase
will want, and visit a mobility special- of a folding power wheelchair. Here are the most important questions to
ist to make sure the lift and the chair ask (if you are in the US):
will fit your car. • Is it FDA cleared? • Are the tires solid so there is no
• Is there US customer service worry about flat tires?
What did I end up buying?
and, if so, where is it located? • What is the height of the seat?
I decided on the EZ-Lite Cruiser®
• Do they have parts available in a Can I stand from that height?
DX12 for more rugged travel with
larger, 12” rear wheels. I named her US warehouse?
Corrina. I always name my equip- • What and how long a time does Recommended
ment because they are my friends, the warranty cover? accessories:
allowing me the freedom to roam. • Seat belt
• How long has the company
Corrina is constructed with airline
been in business? • An extension footrest to
alloy metal. She weighs 65 pounds
• What is the projected battery accommodate longer legs
and lasted through a South African
safari. My only issue is that Corrina life? Is it lithium ion or • More comfortable cushion
does not do well on sharp inclines or equivalent? How fast will it • Drink holder
cobblestone walkways. The FOLD & charge? What is the distance
• Headrest
GO has received rave reviews from that it can travel on a charge?
many who have purchased it. It has • What does the chair weigh with/
a magnesium frame, and its website without battery. If it’s too light it
states that it is waterproof. That was may take bumps poorly.
my second choice.
• What is the weight-carrying
A chair’s weight may be relevant
capacity?
if you or an aide plan to lift it. Some
chairs require both hands to steer. • How does it fold/open?
My hands are too weak, and I need a • Does it have a quick joystick
joystick. I decided against brands that release for easier transport?
could be contacted only via email with
• Do the armrests lift for easy
no US customer service.
transfer if necessary?
Which one is right for you? The
right one is the one you choose to • Will the footrest flip under the
purchase after doing your research. seat instead of swinging away,
making it easier to get in/out?
Editor’s note: Visit Amy’s blog post
on our website for a list of folding
wheelchair makers.
BUILD YOUR
STRENGTHS
Asifa Lalji
My bumpy journey to activism
How I became an advocate for universal design
b y A s i fa L al j i , Va n c o u v e r , C a n ada
s my FSHD progressed, I was forced to become and he picked me up once more. I ignored his pleas to
A less physically active than I had been in the past. call it a day. Once again, I fell. He finally said, forget it,
However, I found an unexpected gift, almost like a trade- sat me on the seat of the rollator, and pushed me home.
off, from the things I had to give up. I had a good cry when I got home because I felt FSHD
I remember the day well. My husband and I were walk- had won that round. But the next day I called my sister-
ing down the boardwalk across from our condo, and I in-law and made arrangements to borrow her father’s
was using my new rollator. I was trying to multitask and power chair. There was no way I was missing a glorious
was on the phone while I pushed the rollator with one summer by sitting indoors.
hand. I stepped on some uneven pavement, and down I I hopped on and pretended I was the Queen of
went. I tried to get up but my body was like jelly, so my England as I zoomed around. Whatever it takes to make
husband picked me up. Two more steps and I fell again, things a positive experience! But as soon as I got to the
10BUILD YOUR
STRENGTHS
boardwalk, I couldn’t believe a photo op, of course. He was
how bumpy the surface was willing to join me, and shared
and how challenging for some- the same aha moment. Just a
one relying on a wheelchair. I couple of hours in a wheel-
bounced and shook the length chair was enough for him to
of this boardwalk as I felt every understand there needed to be
pothole, every uneven plank, changes to fulfill the mandate of
and became keenly aware that I being an accessible and inclu-
should have worn a more struc- sive city.
tured bra! Where were all the Our world is not built in a
ramps? Was I really expected to sustainable way. Anyone can be-
go all the way to the next ramp come mobility challenged at any
only to reverse direction almost time. City planners should strive
the same distance? And why to build communities where
were these doors so small and people can transition seamlessly
“Just a couple of hours in
so heavy? And the bathroom – as they age or as their abilities
impossible to get in and out of a wheelchair was enough change. I quickly gravitated
easily in a wheelchair. toward accessibility through
After just one ride on the for him to understand universal design. The basic
boardwalk, my perspective had premise is to design and build in
completely changed. I was en- there needed to be changes a human-centered approach so
lightened – and ashamed. It made it’s accessible to all regardless of
me think about the unconscious to fulfill the mandate of age, size, ability, or disability.
bias we all have. While I was still I started attending meetings,
walking, I took for granted the being an accessible and volunteered my time with local
ability to step over the potholes, businesses, and joined any city
walk down the steps, not worry
inclusive city.” committee I could to influence
about the ramps, never mind the strategy with my personal lived
– Asifa Lalji
toilet. The more I went out in my experience. I push my agenda of
wheelchair, the more conscious creating an inclusive, accessible,
I became. I was ashamed of my and sustainable city through
own bias for not considering the challenges of people universal design. I’ve influenced street design and trans-
using wheelchairs, and that I had only encountered their portation options, forced developers to change sidewalks
difficulties in my late 40s. and ramps, urged city staff to rethink parks and recre-
One of the things I learned in my career working with ation facilities, and have recommended changes to traffic
government and corporate organizations is how often the flow during the pandemic to accommodate people with
status quo is accepted because no one understands any disabilities.
differently. We may know things in theory, but it’s not the It has been incredibly rewarding to feel that my per-
same as experiencing them directly. sonal experience and my voice – which I thought had
The day after my first wheeled journey, I contacted been silenced since I stopped working – was actually
our mayor and asked if he would join me on a little tour sought after and valued. I found great purpose almost by
on wheels on the boardwalk and surrounding areas, with accident, and I couldn’t be more grateful.
11BUILD YOUR
STRENGTHS
The new Early-Onset FSHD Chapter
Supporting parents in their journey
b y L e i g h R e y n o lds , F S H D S o c i e t y
P arenting is a huge job and a tremendous
blessing. When your child is diagnosed with
a chronic health issue like early-onset FSHD, it can
be overwhelming and extremely isolating.
Looking for options, seeking expert medical care,
maneuvering hurdles within the education system,
and wondering if what you are doing is ever enough
can be all-consuming. Not having proper connec-
tions and resources only makes the isolation even
more extreme.
The FSHD Society wants families to connect and
thrive. Working with families, led by parents, we
have launched the Early-Onset FSHD Chapter. Our
volunteer leaders know all too well the challenges of
parenting a child with FSH muscular dystrophy, and
want to offer support, compassion, and guidance.
If you’re looking for a shoulder to lean on or want
to help others, plug into the Early-Onset FSHD Chapter
today. You can find us at FSHDSociety.org/early-onset
Ally roets (center) and her son Sam Ray (right) are co-leading the early-onset FSHD
or via email at EarlyOnsetChapter@FSHDSociety.org. Chapter with Kristin Zwickau.
Calling all GenZ of FSHD
It’s time for youth to activate!
b y Jac o b D u n n , H e l o i s e H o ffma n n , A l e n a J o n e s , a n d L e x i Pa p p as
J oin the GenZ of FSHD group to connect with other youth affected by
FSHD. Connect with us to hear others’ stories, stay updated on information
and upcoming events, share tips and tricks, and more. We are here to serve as the
voice of GenZ with FSHD and help you stay in the loop. Our generation has the
power to make a difference, and we want to help you find your voice to speak up
about FSHD. Raising awareness about our rare disease is half the battle, and staying
informed can help you have an impact. We understand the struggles faced as young
people living with FSHD, but we believe you can use these roadblocks to excel. Led
by youth with FSHD for youth with FSHD, GenZ of FSHD aims to create a group of
young activists who will join the march for a cure. You are not alone – together, we
will beat FSHD! Follow us on Instagram at @genz_of_fshd.
12BUILD YOUR
STRENGTHS
The army of everyone
There’s a role for every person – so join us!
b y B e t h J o h n s t o n a n d L e i g h R e y n o lds , F S H D S o c i e t y
I
n an army, everyone has a role to play. From top launch our Wellness Hour and Sharegiver Hour
generals to the humblest potato peeler, everyone meetings.
contributes to the battle. It’s the same with our fight to • In a year when fundraising seemed impossible and in-
bring awareness and treatments for FSHD. And the way person Walk & Roll events could not happen, chapters
we have grown our army is through the FSHD Society raised more than half a million dollars through 25 virtual
chapter program. With the mission to enlarge, engage, and Walk & Roll to Cure FSHD fundraisers.
empower an active global community, today we have 33
chapters across the US and Canada, and are adding more. Recalibrate. Reconnect. Recommit.
This incredible expansion has been fueled by the passion Now, we are focused on the road ahead.
and commitment of the individuals who have stepped up
to lead each chapter. We salute you! Time to recalibrate… As the world reopens, we know there
is no going back; we are on a new path. Chapters worked
Why are chapters so important? together to bring new and exciting ideas to the table,
• They provide FSHD families with local hands and hearts, and we want to continue to foster that collaboration and
so that no one need ever face this disease alone. creativity. Many people benefited from and prefer a virtual
• They connect people to local and regional resources, setting, so as we return to in-person programs, we know
enabling families to be their own best advocates when it we need to continue to offer meaningful and effective
comes to physical and mental well-being. virtual options.
• They activate the patient community more deeply, be-
cause an active patient community is critical to accelerat- Time to reconnect… As we slowly emerge from our isola-
ing research that will deliver treatments and a cure. tion, we know that direct, personal connection is one of
the most powerful components of chapter membership. At
This past year, when we could not gather in person, our the right time in each area, chapter leaders are planning
volunteer leaders made it possible for our communities to re:Connect parties and in-person Walk & Roll celebrations.
stay connected. We can’t wait to see you there.
• They quickly adopted Zoom and hosted countless vir-
tual chapter meetings and educational events. Time to recommit… Accelerating the delivery of FSHD ther-
• The FSHD Radio podcast, hosted by Tim Hollenback, apies and bringing us closer to a cure is the focus of all we
increased its broadcast from monthly to weekly in a live do. We simply cannot do it without you. Each and every
format, bringing people online into a shared experience. one of us has a part to play. Little by little, our efforts add
• They joined our mental health task force and helped up to a force that can’t be stopped.
Attendees at the 2021 FSHD Society Volunteer Leadership Summit
13
13ReDUX4 trial results exceed expectations
“Positive benefit/risk supports losmapimod’s potential to be a transformative therapy for the
treatment of FSHD.” —Fulcrum Therapeutics
b y J u n e K i n o sh i t a , F S H D S o c i e t y
F
ulcrum Therapeutics an-
nounced on June 24 that los-
mapimod, the company’s experimental
therapy for facioscapulohumeral mus-
cular dystrophy, produced statistically
significant improvements in function
and decreased fatty infiltration of
muscle in its ReDUX4 clinical trial.
ReDUX4 was a randomized, double-
blind, placebo-controlled Phase 2b
clinical trial in 80 participants. The trial
was conducted at multiple sites inter-
nationally and designed to investigate
the efficacy and safety of losmapimod
taken in 15-mg pills twice per day.
Based on today’s results, Fulcrum said
it “plans to meet with health authori-
ties, including the U.S. Food and Drug Fulcrum employees mark World FSHD Day with orange-slice smiles.
Administration (FDA), in the second
half of 2021 to determine the regula- interested in Fulcrum’s data because must review the data and make a
tory path for losmapimod in FSHD. they indicate which outcome mea- decision on whether to grant an ac-
ReDUX4 looked at a variety of sures are the most robust for future celerated approval or require addi-
indicators of patient physiology and FSHD clinical trials. They will also tional clinical trials before allowing
function, including muscle biopsies, help trial researchers model the num- losmapimod onto the market. The
magnetic resonance imaging (MRI), ber of patients and duration of trials fact that losmapimod has been given
muscle strength and function, and needed to demonstrate the effects of a Fast Track designation is like get-
patient questionnaires. Some of these future drug candidates. ting TSA Pre to get through airport
measures included tools, such as The FSHD community owes security screening faster.
MRI-informed biopsies to look for thanks to the Fulcrum team and to the Fulcrum also said that it is evaluat-
genes activated by DUX4 (the gene patients, caregivers, researchers, clini- ing all populations, including children
that causes FSHD), whole-body MRI, cians, funders, and advocacy groups and individuals who were excluded
reachable workspace (RWS), and that have brought us to this milestone. from the ReDUX4 trial, and “work-
FSHD timed-up-and-go (FSHD TUG), ing with regulators to find the best
which were developed in preparation What does this mean for peo- path forward to get losmapimod to
for this trial. The COVID pandemic ple with FSHD? patients as quickly as possible,” said
forced Fulcrum to extend its trial from There are still hoops to jump Michelle Mellion, senior medical di-
24 to 48 weeks – enabling the collec- through before people will be able rector at Fulcrum.
tion of additional data that allowed to get a prescription for losmapimod. For further details about the clinical
these positive outcomes to be more Fulcrum needs to meet with regula- trial data, read the blog post “ReDUX4
clearly demonstrated. tors and determine its path forward. trial result exceeds expectations” on
Other companies will be keenly The FDA (and in Europe, the EMA) the FSHD Society website.
1428th annual
International
Research Congress
Shining a spotlight on therapy development
b y J u n e K i n o sh i t a , F S H D S o c i e t y
T
he FSHD Society’s 28th annual International The congress also convened a panel to discuss antisense strat-
Research Congress (IRC), conducted entirely egies to treat FSHD, with seven industry and academic speakers
online, brought 350 attendees together virtually on presenting various approaches to silence the target gene, called
June 24 and 25. The two-day conference is the premier DUX4, and deliver their candidate molecules into muscle safely
global platform for the discussion and dissemination of at therapeutically relevant levels.
cutting-edge research on facioscapulohumeral muscular Keynote talks highlighted topics that promise to lead to im-
dystrophy (FSHD). portant new insights and therapeutic targets.
This annual meeting, started in Russell Butterfield, MD PhD, of the University
1994, has catalyzed fundamental Fulcrum broke new of Utah, spoke about an 80-year study of a
discoveries and helped to bring the ground in the use of large Utah kindred with hundreds of FSHD
field to its current state, with 25 cases, which continues to provide insight into
biopharmaceutical companies and muscle biomarkers factors that influence the severity of disease
an international array of academic and magnetic symptoms. Stephen Tapscott, MD PhD, of
labs actively developing treatments the Fred Hutchinson Cancer Research Center,
that target the root genetic cause resonance imaging addressed aspects of the immune response in
of FSHD. The dominantly inherited as outcome measures, FSHD, a subject that had been largely over-
condition, which affects about one looked until very recently.
in 8,000 people in the general pop- both areas that are A growing number of companies spon-
ulation, causes muscle weakness of keen interest to all sored the FSHD International Research
and wasting, leading to significant Congress as they entered the field of FSHD
disability. drug developers in diagnostics and therapy development. This
The 2021 International Research this space. year’s foundation and industry supporters
Congress included a highly an- included: AMRA, Armatus Bio, Arrowhead
ticipated presentation by Fulcrum Pharmaceuticals, Association Français Contre
Therapeutics of the data from its ReDUX4 Phase 2b les Myopathies, Avidity Biosciences, Bionano Genomics, Dyne
clinical trial (see story on page 14). The trial was Therapeutics, Facio Therapies, Fulcrum Therapeutics, Genomic
designed to evaluate the safety and efficacy of losmapi- Vision, miRecule, Muscular Dystrophy Association, National
mod, an investigational selective p38α/β MAPK inhibi- Institutes of Health, PerkinElmer Genomics, Ultragenyx, and the
tor, in addressing the underlying cause of FSHD. It is University of Nevada, Reno.
the first disease-modifying drug for FSHD to advance “Although current circumstances prevent us from hosting an
this far in the clinical trial process. To conduct the trial, in-person meeting, we are delighted by the incredible number
Fulcrum measured multiple clinical and patient-report- of researchers and clinicians who were able to advance the field
ed outcome assessments and broke new ground in during these challenging times,” said Jamshid Arjomand, PhD,
the use of muscle biomarkers and magnetic resonance chief science officer of the FSHD Society. “We are grateful for
imaging as outcome measures, both areas that are of the tremendous support from our sponsors and families, without
keen interest to all drug developers in this space. whom none of this would be possible.”
15A
rrowhead Pharmaceuticals, Inc., a
Pasadena, California, company, has an-
nounced that it is developing a therapy for FSH
muscular dystrophy (FSHD). Called ARO-DUX4,
it is Arrowhead’s first muscle-targeted investi-
gational RNAi therapeutic candidate. Using the
company’s proprietary Targeted RNAi Molecule
(TRIMTM) platform, ARO-DUX4 is designed to
target the gene DUX4, which is thought to be the
root cause of FSHD.
Arrowhead presented its preclinical data on
ARO-DUX4 at the 28th annual FSHD Society
International Research Congress, which was held
virtually on June 24-25, 2021. The data showed
that ARO-DUX4 is highly effective in suppressing
the expression of DUX4 in mice that have been
engineered to express DUX4.
“In our various animal models, ARO-DUX4
reduced DUX4 expression by greater than 70%,
prevented body weight loss associated with
tamoxifen-induced DUX4 expression, and pre-
vented loss of muscle function,” said Chris Anza-
lone, PhD, president and chief executive officer
at Arrowhead. (In these studies, tamoxifen, a
drug used to treat tumors, is employed as an ar-
tificial switch to turn on the DUX4 gene in mice
that have been genetically engineered to respond
in this way. Switching on DUX4 in the mice leads
to muscle degeneration and weakness, similar
to those seen in the human disease. Normally,
tamoxifen does not affect DUX4 expression, so
individuals with FSHD should not be concerned
that taking tamoxifen might trigger the progres-
sion of symptoms.)
Arrowhead is
currently conducting
Adding an arrow toxicology studies and
intends to file for regu-
to the quiver
latory clearance in the
third quarter of 2021 to
begin Phase 1 clinical
New biopharma enters the FSHD space studies, with the aim of
establishing the safety
b y J u n e K i n o sh i t a , F S H D S o c i e t y
and tolerability of
ARO-DUX4 in healthy
Aroowhead CEO Chris Anzalone humans.
Interested in receiv-
ing e-alerts about FSHD clinical trials? Join our
Research Contact Registry (see page 7).
16The search for circulating blood
biomarkers in FSHD
Filling a critical gap in clinical trial readiness
b y Jamsh i d A r j o ma n d , Ph D , C h i e f S c i e n c e Off i c e r , F S H D S o c i e t y
W
hat are biomarkers? Briefly,
they are measurable indicators
of a biological function. For example,
cholesterol levels (HDL, LDL, triglyc-
erides) measured in the blood serve
as an indicator of vascular health.
In cases of high cholesterol, statins
(along with diet and exercise) may be
prescribed to reduce the risk of heart
attacks or strokes.
There are many different types of
biomarkers in medicine. Some are
used to report on an organ’s function
or size (PSA levels for prostate can-
cer), or an organ’s health (CK levels
for muscle damage), or even as a sur-
rogate measure of a drug’s effective-
ness (dystrophin levels in Duchenne Amy Campbell and Suja Jagannathan
muscular dystrophy).
In FSHD, because current thera- a needle biopsy only reports on a muscle. The analysis also included a
peutic approaches are targeting very small muscle region. We know review of existing commercial tests,
DUX4, the toxic gene that causes the that in FSHD, muscle fibers with or “assays,” that could be used to
disease, drug researchers would find activated DUX4 can lie right next to measure these candidate biomark-
it very useful to have a biomarker others that are inactive, so a needle ers. Since developing assays can be
that can measure DUX4 levels. biopsy is a hit-or-miss method. But complicated and take years, making
Unfortunately, DUX4 itself is very if muscle fibers with activated DUX4 use of any ready-made assays would
difficult to measure directly. How- are secreting a unique set of proteins significantly speed up the biomarker
ever, because DUX4 is normally not into the blood, it may be possible to discovery process.
active at all in muscle, and because measure them in a blood test. This Amazingly, three different commer-
when it is active, it is a master switch “blood biomarker” would indicate cial assays were found, and experi-
that activates a series of other genes, DUX4 activity throughout the body ments were quickly designed to test
these “DUX4-regulated” genes could and be a more reliable measure of a whether they are sensitive enough.
potentially be used to report on drug’s impact on DUX4 level. Dr. Amy Campbell and Dr. Suja Jagan-
DUX4 levels indirectly. In June of 2020, the FSHD Soci- nathan at the University of Colorado
This is, in fact, what researchers ety convened a workshop to iden- used a series of muscles-in-a-dish
currently do, by analyzing muscle tify possible DUX4-regulated genes models to quickly help rule candidate
biopsies to monitor DUX4-regulated that might be detectable in blood. biomarkers in or out. Of the three
genes as a proxy for DUX4 levels and The workshop reviewed the pub- potential biomarkers, two failed, but
activity. But muscle biopsies are not lished research data on downstream one candidate was not only detected
ideal. Not only are they invasive, but genes that are activated by DUX4 in Continued on page 19 ...
17Noteworthy
FSHD University Webinar: Dynamic Sitting What is FSHD 360?
We’ve all heard how important a well-tailored After decades of incremental progress,
exercise program is for people with FSH we are in a transformed world. Every
muscular dystrophy. This is easier said than few months, a new pharmaceutical
done, especially if you have difficulty standing company enters the FSHD field. Clinical
up or worry about falling during exercise. In trials are coming. How can you keep up,
our July 15 webinar, Dr. Nikia Stinson discusses upper while taking the best possible care of
body weakness and pain that are frequently experienced yourself and your loved ones?
by people with FSHD, and describes exercises that can The FSHD Society is joining forces
be done from a seated position to help address these with the Clinical Trial Research Network
issues. Dr. Stinson is at the Kennedy Krieger Institute’s (CTRN) sites to provide you with a well-
Center for Genetic Muscle Disorders, where she works rounded education on FSH muscular
Dr. Nikia Stinson
with patients with hereditary muscle diseases, including dystrophy through our “FSHD 360”
FSHD. As a physical therapist and lead clinical evaluator, Dr. Stinson meetings.
participates in ongoing clinical research at the Institute. • What are the basic facts that every
family should know?
• How can you best take care of your
Educating doctors about FSHD on August 12 health and well-being?
Spread the word! The FSHD Society is offering its first-ever CME-accredited • What’s going on at the frontiers of
masterclass on facioscapulohumeral muscular dystrophy (FSHD). This research?
course, which will be held live virtually on August 12, is of interest to any • How soon can you expect clinical
physician and allied health professional who sees adult and pediatric trials and treatments?
neuromuscular patients. Attendees will be able to earn up to 4.25 continuing • What can you do to help?
medical education (CME) credits – a great incentive for doctors who need
CME credits to maintain their medical licenses and/or credentials. FSHD 360 meetings will give you a
This masterclass offers comprehensive, authoritative updates on comprehensive, 360-degree overview of
diagnosis, genetic testing, symptom management, therapeutic strategies, the latest in healthcare and research for
and anticipated clinical trials. Held virtually, it will include live, interactive the FSHD community. Check our Events
sessions with ample time for questions and discussion. Calendar and newsletters for an FSHD
If you know any medical providers who would be interested in updating 360 near you.
their knowledge of FSHD, please let them know.
Visit our blog for details, registration information, and a template for a Thank you to our
letter to send to your doctor.
FSHD 360 sponsors:
18Upcoming
... From page 17 Visit our Events Calendar for updates and to register for events
(fshdsociety.org/fshd-events-calendar/).
The search for circulating
blood biomarkers in FSHD
Fundraisers & FSHD Society
in the muscle cells, but it was also Walk & Rolls RADIO
measurable in the liquid that bathes
Visit the Walk & Roll to ––All shows at 9 p.m. ET,
the cells in the dish – a good proxy
Cure FSHD page for a complete list 8 p.m. CT, 7 p.m. MT,
for blood. More importantly, the (FSHDSociety.org/WalkRoll). 6 p.m. PT
levels of the candidate biomarker September 11: Walk & Rolls in Columbus, August 10
could be reduced when the cells in Chicago, and Dallas September 14
the dish were exposed to compounds September 12: Walk & Rolls in Colorado October 12
that have been shown to lower DUX4 and South Carolina November 9
September 18: Walk & Rolls in 19-plus
levels in the lab.
locations plus International Walk & Roll Chapter
Additional studies have since been
Live-Stream Celebration Meetings
carried out to test this assay with September 19: Walk & Roll in Minnesota
patient blood samples. Unfortunately, October 2: Targeting a Cure in Tampa, FL For virtual meetings,
these experiments did not detect November 6: Western anyone can join from anywhere.
the biomarker in the patient blood PA Drum & Roll Please pay attention to the time zones.
samples at any levels higher than July 18: 1:30 p.m. PT – Pacific
Northwest re:Connect
control samples. This could be due to FSHD 360 July 24: 10 a.m. ET – Ontario Virtual
the assay not being sufficiently sensi- Chapter Meeting
tive, the biomarker itself not being Register in advance. July 27: 5 p.m. CT or 6 p.m. ET – CenTex,
sufficiently stable in circulating blood, August 28: University of Colorado Dallas, and South Carolina virtual
or a combination of both. September 25: UCLA meeting with Dr. Jamshid Arjomand
As with the drug discovery pro- October 30: Virginia Commonwealth September 14: 11:30 a.m. PT – San
University Diego re:Connect
cess, the search for biomarkers is
October 5: 8 p.m. ET – South Carolina
difficult and labor intensive. These October 7: 7 p.m. – New England
initial candidate biomarkers were Webinars Connections (virtual)
the proverbial “low-hanging fruit,”
primarily because there were exist- All webinars at 1 p.m. ET. Wellness
ing commercial assays to detect them. Register in advance. Hour
July 15: Dynamic Sitting, with Nikia
The Society’s aim is to speed up the
Stinson, DPT, Kennedy Krieger Institute Second Monday of
development of essential tools, such
August 19: Sleep, Pain, and FSHD: every month at 5 p.m. ET
as biomarkers, through pragmatic and Uncovering the Missing Link, with August 9
fast steps. The effort may not always Heloise Hoffmann September 13
pan out – that’s science – but the idea September 23: The Mattering Effect: How October 11
is to test all good ideas quickly. Feeling Valued and Adding Value Shape November 8
Several other groups are now test- Our Lives, with Isaac Prilleltensky, PhD,
and Ora Prilleltensky, PhD Sharegiver
ing a variety of candidate biomarkers
October 21: Pregnancy and Reproductive Hour
and actively working on developing Genetic Counseling, with Sanne
assays to measure DUX4 activity in Vincenten, MD, and Nicol Voermans, Last Tuesday of every
blood. Given the importance bio- MD PhD, of Radboud University Medical month at 8 p.m. ET
marker assays play in drug develop- Center, and Jacinda Sampson, MD PhD, July 27
ment, the FSHD Society is commit- of Stanford University Medical Center August 31
November 18: Drug Development panel, September 28
ted to working with all researchers,
with speakers from companies working October 26
clinicians, and companies to help on FSHD therapies November 30
identify and develop a reliable and December 16: Orthotics for FSHD,
sensitive DUX4 biomarker assay for Speakers TBD
the clinic.
19H
dvocate
FS D Nonprofit org
U.S. Postage
Paid
Permit 8
FSHD Society North Reading, MA
75 North Main Street
Suite 1073
Randolph, MA 02368
Moving together toward a cure
Virtual or in-person, in a small group or a large crowd, this year you can Walk & Roll your way!
T
he Walk & Roll to Cure FSHD is the only national Since 2018, the Walk & Roll has had life-changing im-
event focused solely on funding progress for FSH pact. It has united families, friends, neighbors, and local
muscular dystrophy. Led entirely by dedicated volunteers, businesses to forge powerful connections and strengthen
and supported by the FSHD Society staff, these events will our families and our community.
take place all over the US and Canada this fall. Learn more and join us at FSHDSociety.org/WalkRoll.
Together, we move closer to a cure.
Virtual or in-person, in a small group or
a large crowd, this year you can
September 2021
Walk & Roll Your Way.
20You can also read
